CDH8
cadherin 8
Summary
This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1963379383 | 16:61,687,654 | C/G | — | uncertain significance |
| rs750651367 | 16:61,687,720 | T/C | — | uncertain significance |
| rs35314742 | 16:61,687,911 | G/A | — | likely benign |
| rs140000814 | 16:61,687,916 | G/A | — | likely benign |
| rs28599533 | 16:61,688,001 | G/A | — | benign |
| rs781297807 | 16:61,689,401 | T/C | — | uncertain significance |
| rs543586963 | 16:61,689,440 | C/T | — | uncertain significance |
| rs201367392 | 16:61,689,453 | A/T | — | uncertain significance |
| rs202247121 | 16:61,689,477 | A/C | — | uncertain significance |
| rs575023349 | 16:61,747,823 | T/G | — | uncertain significance |
| rs200934735 | 16:61,761,004 | G/A | — | likely benign |
| rs150448972 | 16:61,761,031 | C/T | — | likely benign |
| rs140663152 | 16:61,774,057 | G/T | — | — |
| rs144423980 | 16:61,776,313 | C/T | downstream gene variant | — |
| rs8048207 | 16:61,778,095 | C/T | upstream gene variant | — |
| rs1304094380 | 16:61,823,274 | T/A | — | uncertain significance |
| rs1961323521 | 16:61,823,286 | C/A | — | uncertain significance |
| rs113978852 | 16:61,823,377 | G/A | — | benign |
| rs28895882 | 16:61,837,180 | G/T | — | — |
| rs779227539 | 16:61,851,430 | A/C | — | uncertain significance |
| rs531546217 | 16:61,851,436 | G/A | — | likely benign |
| rs375557193 | 16:61,851,519 | C/T | — | uncertain significance |
| rs534253315 | 16:61,851,530 | G/A | — | uncertain significance |
| rs2507225990 | 16:61,854,840 | C/T | — | uncertain significance |
| rs768700973 | 16:61,854,907 | T/C | — | uncertain significance |
| rs1402228461 | 16:61,854,913 | C/T | — | uncertain significance |
| rs2507226436 | 16:61,854,966 | C/T | — | uncertain significance |
| rs201768054 | 16:61,854,996 | G/A | — | uncertain significance |
| rs1289340961 | 16:61,855,016 | G/C | — | uncertain significance |
| rs1401368054 | 16:61,858,928 | T/C | — | uncertain significance |
| rs1962299903 | 16:61,859,002 | C/T | — | uncertain significance |
| rs199624386 | 16:61,859,081 | T/C | — | uncertain significance |
| rs190954180 | 16:61,891,032 | G/C | — | uncertain significance |
| rs776474523 | 16:61,891,111 | G/A | — | likely benign |
| rs1567502663 | 16:61,891,122 | T/G | — | uncertain significance |
| rs72798770 | 16:61,921,100 | G/A | intron variant | — |
| rs1963966828 | 16:61,935,200 | T/C | — | uncertain significance |
| rs1963967886 | 16:61,935,262 | C/T | — | uncertain significance |
| rs79317201 | 16:62,042,283 | T/A | intron variant | — |
| rs200228755 | 16:62,055,180 | G/C | — | uncertain significance |
| rs139162687 | 16:62,055,223 | T/C | — | uncertain significance |
| rs374728729 | 16:62,055,274 | G/C | — | uncertain significance |
| rs762458282 | 16:62,055,288 | T/C | — | uncertain significance |
| rs139797882 | 16:62,055,298 | G/T | — | likely benign |
| rs7201179 | 16:62,055,746 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.